1
(100.0%)

postaxial acrofacial dysostosis

Cleft upper lip Eyelid coloboma Hypoplasia of the ulna Micrognathia Short thumb

Autosomal recessive inheritance

Postaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis characterised by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital ray and ulnar hypoplasia.

2
(94.2%)

Nager acrofacial dysostosis

Aplasia/Hypoplasia of the thumb Cleft upper lip Hypoplasia of the radius Lower eyelid coloboma Micrognathia

Autosomal dominant inheritance

Nager syndrome, also called Nager acrofacial dysostosis (NAFD) is a congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects.

3
(91.3%)

CHARGE syndrome

Cleft upper lip Downslanted palpebral fissures Hypoplasia of the ulna Micrognathia Short thumb

Autosomal dominant inheritance Sporadic

CHARGE syndrome is a multiple congenital anomaly syndrome characterized by the variable combination of multiple anomalies, mainly Coloboma; Choanal atresia/stenosis; Cranial nerve dysfunction; Characteristic ear anomalies (known as the major 4 C's).

4
(88.1%)

Diamond-Blackfan anemia 1

Cleft upper lip Downslanted palpebral fissures Hypoplasia of the radius Micrognathia Short thumb

Autosomal dominant inheritance

Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS19 gene.

5
(87.9%)

brachyphalangy, polydactyly, and tibial aplasia/hypoplasia

Epicanthus Hand monodactyly Hypoplasia of the ulna Micrognathia U-Shaped upper lip vermilion

Autosomal dominant inheritance

6
(87.6%)

Roberts-SC phocomelia syndrome

Cleft upper lip Eyelid coloboma Hand oligodactyly Micrognathia

Autosomal recessive inheritance

A rare genetic syndrome with an autosomal recessive pattern of inheritance. It is caused by a mutation in the ESCO2 gene. Clinical signs at birth include multiple limb and facial abnormalities.

7
(87.1%)

Fraser syndrome 1

Aplasia/Hypoplasia of the sternum Aplasia/Hypoplasia of the thumb Cleft upper lip Upper eyelid coloboma

Autosomal recessive inheritance

8
(86.9%)

spondyloepiphyseal dysplasia with congenital joint dislocations

Hypoplasia of the ulna Long philtrum Short distal phalanx of finger Sparse and thin eyebrow

Autosomal recessive inheritance

CHST3-related skeletal dysplasia is a very rare bone disorder characterized clinically by short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; limitation of range of motion of large joints; progressive kyphosis; and occasional scoliosis. In a few patients, minor heart valve dysplasia has also been described. Intellect, vision and hearing are normal.

9
(86.4%)

short ulna-dysmorphism-hypotonia-intellectual disability syndrome

Downslanted palpebral fissures Hypoplasia of the ulna Micrognathia Thin upper lip vermilion

Autosomal recessive inheritance

10
(85.5%)

Cornelia de Lange syndrome 1

Cleft upper lip Hand oligodactyly Hypoplasia of the radius Long eyelashes Micrognathia

Autosomal dominant inheritance Sporadic

Any Cornelia de Lange syndrome in which the cause of the disease is a mutation in the NIPBL gene.

11
(85.5%)

SC phocomelia syndrome

Aplasia of the ulna Cleft upper lip Micrognathia Short thumb

Autosomal recessive inheritance

12
(85.1%)

Baller-Gerold syndrome

Aplasia/Hypoplasia of the thumb Cleft palate Epicanthus Hypoplasia of the ulna Micrognathia

Autosomal recessive inheritance

Baller-Gerold syndrome is characterized by the association of coronal craniosynostosis with radial ray anomalies (oligodactyly, aplasia or hypoplasia of the thumb, aplasia or hypoplasia of the radius).

13
(84.7%)

MOMO syndrome

Eyelid coloboma Large hands Short sternum Smooth philtrum

Autosomal dominant inheritance

MOMO syndrome is a very rare genetic overgrowth/obesity syndrome characterized by macrocephaly, obesity, mental (intellectual) disability and ocular abnormalities. Other frequent clinical signs include macrosomia, downslanting palpebral fissures, hypertelorism, broad nasal root, high and broad forehead and delay in bone maturation, in association with normal thyroid function and karyotype.

14
(84.6%)

microphthalmia with cyst, bilateral facial clefts, and limb anomalies

Broad proximal phalanges of the hand Cleft upper lip Eyelid coloboma Short foot

Sporadic

15
(84.2%)

ulnar hypoplasia-split foot syndrome

Hypoplasia of the ulna Short finger Syndactyly

X-linked recessive inheritance

Ulnar hypoplasia-split foot syndrome is characterised by the association of severe ulnar hypoplasia, absence of fingers two to five, and split-foot. It has been described in four males belonging to two generations of the same family. X-linked recessive inheritance is suggested, but autosomal dominant transmission cannot be excluded.

15
(84.2%)

acromesomelic dysplasia, Hunter-Thompson type

Hypoplasia of the ulna Short foot Shortening of all middle phalanges of the fingers Single transverse palmar crease

Autosomal recessive inheritance

Acromesomelic dysplasia, Hunter-Thomson type is an autosomal recessively inherited form of acromesomelic dysplasia characterized by severe dwarfism (adult height approximately 120 cm) with abnormalities limited to the limbs (affecting the lower limbs more than upper limbs, with middle and distal segments being the most affected), severe shortening, absence or fusion of tubular bones of hands and feet and large joint dislocations. As seen in acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Maroteaux type, facial features and intelligence are normal.

15
(84.2%)

acromesomelic dysplasia, Demirhan type

Hypoplasia of the ulna Hypoplasia of the uterus Short finger Short toe

Autosomal recessive inheritance

18
(84.0%)

Wolf-Hirschhorn syndrome

Cleft upper lip Epicanthus Micrognathia Radioulnar synostosis Short thumb

Autosomal dominant inheritance Sporadic

Wolf-Hirschhorn syndrome (WHS) is a developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia.

19
(83.9%)

ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder

Eyelid coloboma Small hand Thin upper lip vermilion

Autosomal dominant inheritance

An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of ADNP on chromosome 20q13.13.

20
(83.9%)

congenital disorder of glycosylation type 1E

Downslanted palpebral fissures Micrognathia Short palm Smooth philtrum Upper limb undergrowth

Autosomal recessive inheritance

The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ie is characterised by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly. Ocular anomalies are also very common.

20
(83.9%)

chromosome 17q12 deletion syndrome

Abnormality of upper lip Epicanthus Micrognathia Short palm Upper limb undergrowth

Autosomal dominant inheritance

17q12 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 17 characterized by renal cystic disease, maturity onset diabetes of the young type 5, and neurodevelopmental disorders, such as cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder. Mullerian aplasia in females, macrocephaly, mild facial dysmorphism (high forehead, deep set eyes and chubby cheeks) and transcient hypercalcaemia have also been reported.

22
(83.8%)

van den Ende-Gupta syndrome

Blepharophimosis Distal ulnar hypoplasia Everted lower lip vermilion Hypoplasia of the maxilla

Autosomal recessive inheritance

Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features.

23
(83.6%)

holoprosencephaly-radial heart renal anomalies syndrome

Aplasia/Hypoplasia of the thumb Bifid uvula Hypoplasia of the ulna Median cleft lip and palate Missing ribs

Autosomal dominant inheritance

Holoprosencephaly-radial heart renal anomalies syndrome is characterised by holoprosencephaly, predominantly radial limb deficiency (absent thumbs, phocomelia), heart defects, kidney malformations and absence of gallbladder.

24
(83.4%)

Beemer-Langer syndrome

Epicanthus Median cleft lip and palate Short finger Short long bone Short ribs

Autosomal recessive inheritance

Short rib-polydactyly syndrome (SRPS), Beemer-Langer type is an extremely rare type of SRPS developing prenatally or immediately after birth and characterized by short and narrow thorax with horizontally oriented ribs. Other bone features include small iliac bones, short tubular bones, bowing of long bones and rarely pre- and post-axial polydactyly. Brain defects are common and some cases of cleft lip, absent internal genitalia and renal, biliary and pancreatic cysts have been reported. The course is rapidly fatal.

25
(83.1%)

acrocraniofacial dysostosis

Downslanted palpebral fissures Micrognathia Short 1st metacarpal Short first metatarsal Short philtrum

Autosomal recessive inheritance

Acrocraniofacial dysostosis is a very rare form of acrofacial dyosotosis, reported in two sisters to date, characterized by short stature, acrocephaly, ocular hypertelorism, ptosis of eyelids, ocular proptosis, downslanting palpebral fissures, high nasal bridge, anteverted nostrils, short philtrum, cleft palate, micrognathia, abnormal external ears, preauricular pits, mixed hearing loss, bulbous digits, metatarsus varus, pectus excavatum and various radiological abnormalities. Features of this syndrome were reported to overlap with otopalatodigital syndrome types 1 and 2. There have been no further descriptions in the literature since 1988.

26
(82.9%)

Diamond-Blackfan anemia 11

Abnormal eyelid morphology Absent thumb Cleft palate Hypoplasia of the radius Hypoplasia of the ulna

Autosomal dominant inheritance

Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL26 gene.

27
(82.9%)

Weyers ulnar ray/oligodactyly syndrome

Aplasia/Hypoplasia of the ulna Cleft palate Cleft upper lip Hand oligodactyly Micrognathia

Autosomal dominant inheritance

28
(82.8%)

Holt-Oram syndrome

Absent thumb Hypoplasia of the ulna Pectus excavatum Short clavicles

Autosomal dominant inheritance

Holt-Oram syndrome (HOS) is the most common form of heart-hand syndrome and is characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects.

29
(82.7%)

otopalatodigital syndrome type 2

Cleft palate Downslanted palpebral fissures Micrognathia Radial bowing Short thumb

X-linked dominant inheritance

Otopalatodigital syndrome type 2 (OPD2) is a severe form of otopalatodigital syndrome spectrum disorder, and is characterized by dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine) and poor survival.

30
(82.3%)

Jacobsen syndrome

Brachydactyly Eyelid coloboma Micrognathia U-Shaped upper lip vermilion

Sporadic

Jacobsen syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11.

31
(82.3%)

acromesomelic dysplasia, Grebe type

Hypoplasia of the ulna Postaxial hand polydactyly Short foot Valgus hand deformity

Autosomal recessive inheritance

Acromesomelic dysplasia, Grebe type is an autosomal recessively inherited form of acromesomelic dysplasia characterized by severe dwarfism at birth, abnormalities confined to limbs, severe shortening and deformity of long bones, fusion or absence of carpal and tarsal bones, ball shaped fingers and, occasionally, polydactyly and absent joints. As seen in acromesomelic dysplasia, Hunter-Thomson type and acromesomelic dysplasia, Maroteaux Type, facial features and intelligence are normal.

32
(82.2%)

autosomal dominant Robinow syndrome 1

Broad thumb Epicanthus Micrognathia Short middle phalanx of the 5th finger Thin upper lip vermilion

Autosomal dominant inheritance

Any autosomal dominant Robinow syndrome in which the cause of the disease is a mutation in the WNT5A gene.

32
(82.2%)

autosomal recessive Robinow syndrome

Aplasia/Hypoplasia involving the metacarpal bones Downslanted palpebral fissures Micrognathia Short middle phalanx of the 5th finger Thin upper lip vermilion

Autosomal recessive inheritance

Autosomal recessive Robinow syndrome (RRS) is the less common type of Robinow syndrome (RS) characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia.

34
(82.1%)

asphyxiating thoracic dystrophy 3

Cleft palate Cleft upper lip Hypoplasia of the ulna Short ribs

Autosomal recessive inheritance Digenic inheritanec

An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the DYNC2H1 gene on chromosome 11q22.

35
(82.1%)

cataract-intellectual disability-hypogonadism syndrome

Epicanthus Micrognathia Short palm Short philtrum Slender ulna

Autosomal recessive inheritance

This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.

36
(81.8%)

skeletal dysplasia and progressive central nervous system degeneration, lethal

Hypoplasia of the radius Hypoplasia of the ulna Long philtrum Malar flattening Micrognathia

Autosomal recessive inheritance

37
(81.8%)

3MC syndrome 1

Cleft upper lip Epicanthus inversus Radioulnar synostosis Short 5th finger Short foot

Autosomal recessive inheritance

Any 3MC syndrome in which the cause of the disease is a mutation in the MASP1 gene.

38
(81.8%)

ablepharon macrostomia syndrome

Cryptophthalmos Short metacarpal Short upper lip

Autosomal dominant inheritance

Ablepharon macrostomia syndrome is an extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome.

39
(81.8%)

Zechi-Ceide syndrome

Blepharophimosis Cleft upper lip Short distal phalanx of finger Short metatarsal

Autosomal recessive inheritance

40
(81.7%)

Myhre syndrome

Blepharophimosis Mandibular prognathia Short finger Short long bone Thin upper lip vermilion

Autosomal dominant inheritance

Myhre syndrome is characterised by striking muscular build, short stature, reduced joint mobility, brachydactyly, mixed hearing loss and mental retardation of variable severity. Facial dysmorphism with short palpebral fissures, short philtrum, thin lips, maxillary hypoplasia and prognathism is present. Thick skin has been observed in six patients.

41
(81.6%)

cranioectodermal dysplasia 1

Epicanthus Everted lower lip vermilion Fibular hypoplasia Short distal phalanx of finger Short ribs

Autosomal recessive inheritance

Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the IFT122 gene.

42
(81.5%)

acrofrontofacionasal dysostosis

Cleft upper lip Long eyelashes Mandibular prognathia Short distal phalanx of finger Short metacarpal

Autosomal recessive inheritance

Acro-fronto-facio-nasal dysostosis is a congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies.

43
(81.5%)

X-linked lethal multiple pterygium syndrome

Cleft upper lip Epicanthus Micrognathia Short finger

X-linked inheritance

X-linked form of lethal multiple pterygium syndrome.

43
(81.5%)

Fryns syndrome

Blepharophimosis Cleft upper lip Microretrognathia Short thumb

Autosomal recessive inheritance

Fryns syndrome (FS) is a multiple congenital anomaly syndrome characterized by dysmorphic facial features, congenital diaphragmatic hernia, pulmonary hypoplasia, and distal limb hypoplasia, in addition to variable expression of additional malformations.

43
(81.5%)

branchiooculofacial syndrome

Cleft upper lip Micrognathia Short thumb Telecanthus

Autosomal dominant inheritance

Branchio-oculo-facial syndrome (BOFS) is characterised by low birth weight and growth retardation, bilateral branchial clefts that may be hemangiomatous, sometimes with linear skin lesions behind the ears ('burn-like' lesions), congenital strabismus, obstructed nasolacrimal ducts, a broad nasal bridge with a flattened nasal tip, a protruding upper lip with an unusually broad and prominent philtrum, and full mouth.

46
(81.4%)

Pallister-W syndrome

Downslanted palpebral fissures Hypoplasia of the ulna Submucous cleft hard palate

X-linked inheritance

W syndrome is characterised by intellectual deficit, epileptic seizures and facial dysmorphism. Skeletal anomalies are also often present. To date, it has been described in six male patients. The mode of transmission appears to be X-linked dominant.

47
(81.4%)

complex lethal osteochondrodysplasia

Fractured radius Micrognathia Short femur Telecanthus Unilateral cleft lip

Autosomal recessive inheritance

48
(81.3%)

Weaver syndrome

Epicanthus Large hands Long philtrum Short fourth metatarsal Short ribs

Autosomal dominant inheritance

Weaver syndrome (WVS) is a rare, multisystem disorder characterized by tall stature, a typical facial appearance (hypertelorism, retrognathia) and variable intellectual disability. Additional features may include camptodactyly, soft doughy skin, umbilical hernia, and a low hoarse cry.

49
(81.0%)

Duane-radial ray syndrome

Epicanthus Hypoplasia of the radius Hypoplasia of the ulna Short thumb

Autosomal dominant inheritance

A syndrome of multiple congenital anomalies and is characterized by ocular manifestations (uni- or bilateral Duane anomaly (95% of cases), congenital optic nerve hypoplasia or optic disc coloboma), bilateral deafness and radial ray malformation that can include thenar hypoplasia and/or hypoplasia or aplasia of the thumbs; hypoplasia or aplasia of the radii; shortening and radial deviation of the forearms; triphalangeal thumbs; and duplication of the thumb (preaxial polydactyly).The phenotype overlaps with other SALL4>/i> related disorders including acro-renal-ocular syndrome and Holt-Oram syndrome (see these terms). Transmission is autosomal dominant.

49
(81.0%)

Alagille syndrome due to a JAG1 point mutation

Hypoplasia of the ulna Short distal phalanx of finger Triangular face Upslanted palpebral fissure

Autosomal dominant inheritance

51
(81.0%)

Aarskog-Scott syndrome, X-linked

Cleft upper lip Downslanted palpebral fissures Hypoplasia of the odontoid process Short 5th finger Short palm

X-linked recessive inheritance

Aarskog-Scott syndrome (AAS) is a rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature.

51
(81.0%)

chromosome 1p36 deletion syndrome

11 pairs of ribs Cleft upper lip Epicanthus Short 5th finger

Sporadic

1p36 deletion syndrome is a chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency.

53
(80.9%)

Smith-Lemli-Opitz syndrome

Epicanthus Long philtrum Micrognathia Micromelia Short thumb

Autosomal recessive inheritance

Smith-Lemli-Opitz syndrome (SLOS) is characterized by multiple congenital anomalies, intellectual deficit, and behavioral problems.

54
(80.9%)

Neu-Laxova syndrome 1

Ablepharon Cleft upper lip Micrognathia Micromelia Radial deviation of finger

Autosomal recessive inheritance

Any Neu-Laxova syndrome in which the cause of the disease is a mutation in the PHGDH gene.

55
(80.8%)

cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies

Broad thumb Cleft upper lip Short 5th finger Upslanted palpebral fissure

Autosomal dominant inheritance

55
(80.8%)

Simpson-Golabi-Behmel syndrome type 1

Broad thumb Epicanthus Short distal phalanx of finger Short foot Submucous cleft lip

X-linked recessive inheritance

Any Simpson-Golabi-Behmel syndrome in which the cause of the disease is a mutation in the GPC3 gene.

57
(80.8%)

nevoid basal cell carcinoma syndrome

Cleft upper lip Orbital cyst Short 4th metacarpal Short distal phalanx of the thumb Short ribs

Autosomal dominant inheritance Heterogeneous

A rare hereditary disorder due to autosomal dominant transmission with hamartosis characterized by multiple early-onset basal cell carcinoma (BCC), multiple jaw keratocysts and skeletal abnormalities.

58
(80.8%)

phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome

Aplasia/Hypoplasia of the thumb Downslanted palpebral fissures Fibular hypoplasia Long philtrum Ulnar bowing

Autosomal dominant inheritance

Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome is characterised by phocomelia (involving arms more severely), ectrodactyly, ear anomalies (bilateral anomalies of the pinnae), conductive deafness, dysmorphism (long and prominent philtrum, mild maxillary hypoplasia) and sinus arrhythmia. It has been described in four patients (a father and his son and a mother and her daughter) from two unrelated families.

59
(80.8%)

Marshall-Smith syndrome

Distal widening of metacarpals Short distal phalanx of finger Short mandibular rami Short philtrum Thick eyebrow

Autosomal dominant inheritance Sporadic

Marshall-Smith syndrome is a rare genetic disease characterized by tall stature and advanced bone age at birth.

60
(80.7%)

syndromic X-linked intellectual disability Claes-Jensen type

Micrognathia Short distal phalanx of finger Thin upper lip vermilion Upslanted palpebral fissure

X-linked recessive inheritance

60
(80.7%)

multiple congenital anomalies-hypotonia-seizures syndrome 1

Epicanthus Long philtrum Micrognathia Short distal phalanx of finger

Autosomal recessive inheritance

Any multiple congenital anomalies/dysmorphic syndrome-intellectual disability in which the cause of the disease is a mutation in the PIGN gene.

60
(80.7%)

Cornelia de Lange syndrome 3

Long eyelashes Micrognathia Short 5th finger Thin upper lip vermilion

Autosomal dominant inheritance

Any Cornelia de Lange syndrome in which the cause of the disease is a mutation in the SMC3 gene.

60
(80.7%)

Yunis-Varon syndrome

Micrognathia Short finger Short upper lip Upslanted palpebral fissure

Autosomal recessive inheritance

Yunis-Varon syndrome is a rare condition that affects many different parts of the body. Signs and symptoms are generally present from birth and may include underdeveloped or absent collarbones (clavicles); large fontanelles; characteristic facial features; hypotonia (reduced muscle tone) and/or abnormalities of the fingers and toes. Affected people may also experience feeding difficulties, breathing problems, brain malformations, heart defects, skeletal abnormalities, developmental delay, and/or intellectual disability. Yunis-Varon syndrome is caused by changes (mutations) in the FIG4 gene and isinherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.

60
(80.7%)

chromosome 15q24 deletion syndrome

Epicanthus Microretrognathia Short palm Short thumb Smooth philtrum

Autosomal dominant inheritance Sporadic

15q24 microdeletion syndrome is a rare chromosomal anomaly characterized cytogenetically by a 1.7-6.1 Mb deletion in chromosome 15q24 and clinically by pre- and post-natal growth retardation, intellectual disability, distinct facial features, and genital, skeletal, and digital anomalies.

60
(80.7%)

progeroid syndrome, Petty type

Downslanted palpebral fissures Micrognathia Short distal phalanx of finger Thin upper lip vermilion

Autosomal dominant inheritance

Progeroid syndrome, Petty type is a rare premature aging syndrome characterized by pre-and postnatal growth retardation, a congenital premature-aged appearance with distinctive craniofacial dysmorphism (wide calvaria with large open anterior fontanel and wide metopic suture, broad forehead, small face, micrognathia), markedly diminished subcutaneous fat, cutis laxa and wrinkled skin, without delay in psychomotor development. Scant, brittle hair, hypoplastic nails and delayed, abnormal dentition, as well as hypoplastic distal phalanges, umbilical hernia and eye abnormalities (myopia/hyperopia, strabismus), are also commonly associated.

66
(80.7%)

asphyxiating thoracic dystrophy 1

Hypoplasia of the ulna Renal insufficiency Short ribs

Autosomal recessive inheritance

An asphyxiating thoracic dystrophy associated with variation in the region 15q13.

67
(80.5%)

atrioventricular defect-blepharophimosis-radial and anal defect syndrome

Aplasia of the 1st metacarpal Blepharophimosis Hypoplasia of the ulna Micrognathia Wide nasal bridge

Autosomal recessive inheritance

Atrioventricular defect-blepharophimosis-radial and anal defect syndrome is a rare, genetic multiple congenital anomaly syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.

68
(80.5%)

microgastria-limb reduction defect syndrome

Cryptorchidism Hand oligodactyly Hypoplasia of the ulna

Sporadic

This syndrome is characterised by the association of microgastria with a limb reduction defect.

69
(80.5%)

Sweeney-Cox syndrome

Long fingers Micrognathia Short philtrum Upper eyelid coloboma

Autosomal dominant inheritance

70
(80.5%)

acro-renal-mandibular syndrome

Epicanthus Hypoplasia of the radius Hypoplasia of the ulna Micrognathia Narrow palate

Autosomal recessive inheritance

Acro-renal-mandibular syndrome is a very rare multiple congenital anomalies syndrome characterized by limb deficiencies and renal anomalies that include split hand-split foot malformation, renal agenesis, polycystic kidneys, uterine anomalies and severe mandibular hypoplasia. An autosomal recessive mode of inheritance has been suggested.

71
(80.5%)

Peters plus syndrome

Cleft upper lip Micrognathia Short metatarsal Short palm Upslanted palpebral fissure

Autosomal recessive inheritance

Peters plus syndrome is an autosomal recessively inherited syndromic developmental defect of the eye characterized by a variable phenotype including Peters anomaly and other anterior chamber eye anomalies, short limbs, limb abnormalities (i.e. rhizomelia and brachydactyly), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate, and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys) and congenital hypothyroidism.

72
(80.4%)

microcephaly-micromelia syndrome

Absent radius Cleft palate Forearm undergrowth Micrognathia Short palpebral fissure

Autosomal recessive inheritance

72
(80.4%)

tarp syndrome

Cleft palate Hypoplasia of the radius Micrognathia Short palpebral fissure

X-linked inheritance X-linked recessive inheritance

TARP syndrome is a rare developmental defect during embryogenesis syndrome characterized by Robin sequence (micrognathia, glossoptosis, and cleft palate), atrial septal defect, persistence of the left superior vena cava, and talipes equinovarus. The phenotype is variable, some patients present with further dysmorphic characteristics (e.g. hypertelorism, ear abnormalities) while others do not have any key findings. Additional features, such as syndactyly, polydactyly, or brain anomalies (e.g. cerebellar hypoplasia), have also been reported. The syndrome is almost invariably lethal with affected males either dying prenatally or living just a few months.

72
(80.4%)

Seckel syndrome 1

Cleft palate Downslanted palpebral fissures Hypoplasia of proximal radius Micrognathia

Autosomal recessive inheritance

Any Seckel syndrome in which the cause of the disease is a mutation in the ATR gene.

75
(80.3%)

orofaciodigital syndrome IV

Cleft palate Epicanthus Micrognathia Short finger Short tibia

Autosomal recessive inheritance

Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet.

76
(80.3%)

choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome

Cleft upper lip Lower eyelid coloboma Micrognathia

Autosomal recessive inheritance

Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, also known as Burn-McKeown syndrome, is an extremely rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia associated with a characteristic cranio-facial dysmorphism (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid with presence of eyelashes medial to the defect, prominent nasal bridge, thin lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. The features of this syndrome overlaps considerably with those of the CHARGE syndrome.

76
(80.3%)

oculo-auriculo-vertebral spectrum

Cleft upper lip Micrognathia Upper eyelid coloboma

Autosomal dominant inheritance

78
(80.2%)

Ulbright-Hodes syndrome

Aplasia of the ulna Micrognathia Narrow mouth Short metacarpal Thin vermilion border

Autosomal recessive inheritance

Ulbright-Hodes syndrome is characterised by renal dysplasia, growth retardation, phocomelia or mesomelia, radiohumeral fusion, rib abnormalities, anomalies of the external genitalia and a potter-like facies. The syndrome has been described in three infants (one pair of sibs and an unrelated case), all of whom died shortly after birth from respiratory distress resulting from pulmonary hypoplasia and oligohydramnios caused by renal dysplasia. The mode of transmission appears to be autosomal recessive.

79
(80.2%)

phocomelia, Schinzel type

Aplasia of the ulna Congenital pseudoarthrosis of the clavicle Epicanthus Hand oligodactyly Narrow palate

Autosomal recessive inheritance

Schinzel phocomelia syndrome, also called limb/pelvis hypoplasia/aplasia syndrome, is characterized by skeletal malformations affecting the ulnae, pelvic bones, fibulae and femora. As the phenotype is similar to that described in the malformation syndrome known as Al-Awadi/Raas-Rothschild syndrome, they are thought to be the same disorder.

80
(80.2%)

skeletal defects, genital hypoplasia, and intellectual disability

Absent thumb Hypoplasia of the ulna Narrow mouth Thin vermilion border

Autosomal recessive inheritance

81
(80.1%)

lethal faciocardiomelic dysplasia

Hypoplasia of the ulna Micrognathia Narrow mouth Short 5th finger

Autosomal recessive inheritance

Lethal faciocardiomelic dysplasia is an extremely rare polymalformative syndrome.

82
(80.1%)

hyperphosphatasia with intellectual disability syndrome 1

Cleft upper lip Mandibular prognathia Short distal phalanx of finger Upslanted palpebral fissure

Autosomal recessive inheritance

Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGV gene.

83
(80.0%)

Temple-Baraitser syndrome

Broad thumb Epicanthus Long philtrum Short distal phalanx of finger

Autosomal dominant inheritance

Temple-Baraitser syndrome is a rare developmental anomalies syndrome characterized by severe intellectual disability and distal hypoplasia of digits, particularly of thumbs and halluces, with nail aplasia or hypoplasia. Facial dysmorphism with a pseudo-myopathic appearance has been reported, which may include high anterior hairline or low frontal hairline with central cowlick, flat forehead, ptosis, hypertelorism, downslanting palpebral fissures, epicanthal folds, ears with thick helices, broad depressed nasal bridge with anteverted nares, short columella, long philtrum, high-arched palate, broad mouth with thick vermilion border of the upper or the lower lip and downturned corners. Marked hypotonia, seizures and global developmental delay have been reported, associated with autistic spectrum disorder manifestations in some patients.

84
(80.0%)

Fanconi anemia complementation group P

Blepharophimosis Bulbous nose Hypoplasia of the radius Micrognathia Short thumb

Autosomal recessive inheritance

Any Fanconi anemia in which the cause of the disease is a mutation in the SLX4 gene.

85
(80.0%)

Richieri Costa-Pereira syndrome

Cleft lower alveolar ridge Hypoplasia of the radius Microretrognathia Narrow mouth Short thumb

Autosomal recessive inheritance

Richieri Costa-Pereira syndrome is characterized by short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies (including hypoplastic thumbs), and clubfoot. It has been described in 14 Brazilian families and in one unrelated French patient. Prominent low set ears and a highly arched palate were also observed. Transmission is autosomal recessive.

86
(79.9%)

LADD syndrome

Absence of Stensen duct Absent proximal phalanx of thumb Downslanted palpebral fissures Hypoplasia of the radius Hypoplasia of the ulna

Autosomal dominant inheritance

Lacrimoauriculodentodigital (LADD) syndrome is a multiple congenital anomaly syndrome characterized by hypoplasia, aplasia or atresia of the lacrimal system; anomalies of the ears and hearing loss; hypoplasias, apalsias or atresias of the salivary glands; dental anomalies and digital malformations.

87
(79.9%)

microphthalmia with limb anomalies

Cleft upper lip Downslanted palpebral fissures Fibular hypoplasia Hand oligodactyly Retrognathia

Autosomal recessive inheritance

Microphthalmia with limb anomalies, also known as ophthalmo-acromelic syndrome (OAS), is a rare developmental disorder characterized by bilateral microphthalmia or anophthalmia, synostosis, syndactyly, oligodactyly and/or polydactyly.

88
(79.8%)

short-rib thoracic dysplasia 7 with or without polydactyly

Cleft palate Epicanthus Short distal phalanx of finger Short long bone Short ribs

Autosomal recessive inheritance

An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the WDR35 gene on chromosome 2p21.1.

89
(79.8%)

Fanconi anemia complementation group O

Cryptorchidism Hypoplasia of the radius Short thumb

Autosomal recessive inheritance

Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51C gene.

89
(79.8%)

IVIC syndrome

Carpal bone hypoplasia Hypoplasia of the radius Rectovaginal fistula Short 1st metacarpal

Autosomal dominant inheritance

IVIC syndrome is a very rare genetic malformation syndrome characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral non-progressive mixed hearing loss.

91
(79.7%)

multiple congenital anomalies-hypotonia-seizures syndrome 3

Abnormality of the dentition Hypoplasia of the ulna Long philtrum

Autosomal recessive inheritance

Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome is a rare congenital disorder of glycosylation characterized by neonatal hypotonia, global development delay, developmental regress and severe to profound intellectual disability, infantile onset seizures that are initially associated with febrile episodes with subsequent transition to unprovoked seizures, impaired vision with esotropia and nystagmus, progressive cerebral and cerebellar atrophy, skeletal abnormalities (including brachycephaly, scoliosis, slender long bones, delayed bone age, pectus excavatum and osteopenia), inverted nipples and dysmorphic features including high and narrow forehead, frontal bossing, short nose, depressed nasal bridge, anteverted nares, high palate and wide open mouth consistent with facial hypotonia. Other features may include cardiac abnormalities (such as patent ductus arteriosus, atrial septal defects), urogenital abnormalities (such as nephrocalcinosis, urolithiasis), and low plasma concentration of alkaline phosphatase.

92
(79.7%)

Cohen syndrome

Downslanted palpebral fissures Micrognathia Short metacarpal Short metatarsal Short philtrum

Autosomal recessive inheritance

Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity.

92
(79.7%)

van Maldergem syndrome 2

Epicanthus Micrognathia Short 4th metacarpal Short fourth metatarsal Tented upper lip vermilion

Autosomal recessive inheritance

Any van Maldergem syndrome in which the cause of the disease is a mutation in the FAT4 gene.

92
(79.7%)

Andersen-Tawil syndrome

Blepharophimosis Short mandibular rami Short metatarsal Short palm Thin upper lip vermilion

Autosomal dominant inheritance

Andersen's syndrome (AS) is a rare disorder characterized by periodic muscle paralysis, prolongation of the QT interval with a variety of ventricular arrhythmias (leading to predisposition to sudden cardiac death) and characteristic physical features: short stature, scoliosis, low-set ears, hypertelorism, broad nasal root, micrognathia, clinodactyly, brachydactyly and syndactyly.

92
(79.7%)

van Maldergem syndrome 1

Epicanthus Micrognathia Short 4th metacarpal Short fourth metatarsal Tented upper lip vermilion

Autosomal recessive inheritance

Any van Maldergem syndrome in which the cause of the disease is a mutation in the DCHS1 gene.

92
(79.7%)

Cri-du-chat syndrome

Epicanthus Microretrognathia Short metacarpal Short metatarsal Short philtrum

Autosomal dominant inheritance Sporadic

Monosomy 5p, also known as Cri du chat syndrome, is a rare autosomal deletion syndrome characterized by a mewing cry (cri du chat) in infancy, multiple congenital anomalies, intellectual disability, microcephaly, and facial dysmorphism.

97
(79.7%)

Meier-Gorlin syndrome 6

Downslanted palpebral fissures Microretrognathia Short middle phalanx of finger Thick vermilion border

Autosomal dominant inheritance

Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the GMNN gene.

97
(79.7%)

Kabuki syndrome 2

Epicanthus Lower lip pit Micrognathia Short 5th finger

X-linked dominant inheritance

99
(79.6%)

trichorhinophalangeal syndrome, type III

Short finger Short foot Short metatarsal Sparse lateral eyebrow Thin upper lip vermilion

Autosomal dominant inheritance

A trichorhinophalangeal syndrome caused by mutations in TRPS1 characterized by the presence of severe brachydactyly, due to short metacarpals, and severe short stature.

99
(79.6%)

glycosylphosphatidylinositol biosynthesis defect 18

Deep philtrum Highly arched eyebrow Short distal phalanx of finger Short fourth metatarsal

Autosomal recessive inheritance